Canonical Allele Identifier: CA2684619139

Gene: CFTR

Linked Data

• gnomAD v4: 7-117590482-TAAAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117590483_117590486del , CM000669.2:g.117590483_117590486del	GRCh38
NC_000007.13:g.117230537_117230540del , CM000669.1:g.117230537_117230540del	GRCh37
NC_000007.12:g.117017773_117017776del	NCBI36
NG_016465.4:g.129700_129703del , LRG_663:g.129700_129703del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.1766+44_1766+47del	ENSP00000497673.2:n.1766+44_1766+47del
ENST00000647978.2:c.*1480+44_*1480+47del	ENSP00000497658.1:n.*1480+44_*1480+47del
ENST00000649781.2:c.1583+44_1583+47del	ENSP00000497203.1:n.1583+44_1583+47del
ENST00000685018.2:c.1766+44_1766+47del	ENSP00000510194.2:n.1766+44_1766+47del
ENST00000687278.2:c.1766+44_1766+47del	ENSP00000509593.2:n.1766+44_1766+47del
ENST00000699585.1:c.1766+44_1766+47del	ENSP00000514456.1:n.1766+44_1766+47del
ENST00000699598.1:c.1766+44_1766+47del	ENSP00000514467.1:n.1766+44_1766+47del
ENST00000699599.1:c.1766+44_1766+47del	ENSP00000514468.1:n.1766+44_1766+47del
ENST00000699600.1:c.1766+44_1766+47del	ENSP00000514469.1:n.1766+44_1766+47del
ENST00000699601.1:c.*66+44_*66+47del	ENSP00000514470.1:n.*66+44_*66+47del
ENST00000699602.1:c.1766+44_1766+47del	ENSP00000514471.1:n.1766+44_1766+47del
ENST00000699604.1:c.*1590+44_*1590+47del	ENSP00000514472.1:n.*1590+44_*1590+47del
ENST00000699605.1:c.1340+44_1340+47del	ENSP00000514473.1:n.1340+44_1340+47del
ENST00000003084.11:c.1766+44_1766+47del MANE Select	ENSP00000003084.6:n.1766+44_1766+47del
ENST00000647978.1:c.*1480+44_*1480+47del	ENSP00000497658.1:n.*1480+44_*1480+47del
ENST00000648260.1:c.1402-12343_1402-12340del	ENSP00000497957.1:n.1402-12343_1402-12340del
ENST00000649406.1:c.1583+44_1583+47del	ENSP00000497965.1:n.1583+44_1583+47del
ENST00000649781.1:c.1583+44_1583+47del	ENSP00000497203.1:n.1583+44_1583+47del
ENST00000003084.10:c.1766+44_1766+47del	ENSP00000003084.6:n.1766+44_1766+47del
ENST00000426809.5:c.1676+44_1676+47del	ENSP00000389119.1:n.1676+44_1676+47del
NM_000492.3:c.1766+44_1766+47del , LRG_663t1:c.1766+44_1766+47del	NP_000483.3:n.1766+44_1766+47del
XM_011515751.1:c.1856+44_1856+47del	XP_011514053.1:n.1856+44_1856+47del
XM_011515752.1:c.1856+44_1856+47del	XP_011514054.1:n.1856+44_1856+47del
XM_011515753.1:c.1523+44_1523+47del	XP_011514055.1:n.1523+44_1523+47del
XM_011515754.1:c.1523+44_1523+47del	XP_011514056.1:n.1523+44_1523+47del
NM_000492.4:c.1766+44_1766+47del MANE Select	NP_000483.3:n.1766+44_1766+47del